Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
about
Ataxia.A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosisFine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigreesCerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations.Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.Past, present and future therapeutics for cerebellar ataxias.Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis.A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Cholestenoic acids regulate motor neuron survival via liver X receptors.Young onset dementiaCerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.Differential diagnosis in patients with suspected bile acid synthesis defects.Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.Atherosclerosis: immune and inflammatory aspects.Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry methodMechanisms of disease: Inborn errors of bile acid synthesis.Psychiatric manifestations in cerebrotendinous xanthomatosis.Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.Myoclonus and dystonia in cerebrotendinous xanthomatosis.Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Current concepts in the treatment of hereditary ataxias.A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.Membrane-protein interactions contribute to efficient 27-hydroxylation of cholesterol by mitochondrial cytochrome P450 27A1.Context-dependent compensation among phosphatidylserine-recognition receptors.Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.
P2860
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P2860
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@en
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@nl
type
label
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@en
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@nl
prefLabel
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@en
Clinical and molecular genetic ...... erebrotendinous xanthomatosis.
@nl
P2093
P2860
P356
P1433
P1476
Clinical and molecular genetic ...... cerebrotendinous xanthomatosis
@en
P2093
B G van Engelen
F J Gabreëls
G C Steenbergen
J P Theelen
L H Hoefsloot
L P van den Heuvel
P2860
P304
P356
10.1093/BRAIN/123.5.908
P407
P478
123 ( Pt 5)
P577
2000-05-01T00:00:00Z